Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/ced.13887 | DOI Listing |
Publication Analysis
Top Keywords
plack syndrome
4
syndrome remarkable
4
remarkable phenotypic
4
phenotypic homogeneity
4
plack
1
remarkable
1
phenotypic
1
homogeneity
1
Similar Publications
Defining an ageing-related pathology, disease or syndrome: International Consensus Statement.
Geroscience
September 2024
Cardiff School of Technologies, Cardiff Metropolitan University, Cardiff, UK.
Article Synopsis
- People are living longer globally, but longer life doesn't always mean better health as age-related diseases can greatly affect health and quality of life.
- It's important to create systems that categorize and stage these age-related issues to understand the healthcare and socioeconomic needs of aging populations.
- A recent meeting in Cardiff gathered 150 experts who agreed on three main criteria to classify age-related pathologies, which will help in addressing these health challenges effectively.
Article Synopsis
- Globally, while people are living longer, many experience a decline in health due to age-related diseases, highlighting the need for better classification systems to address these issues.
- A consensus meeting with 150 experts established criteria for identifying ageing-related pathologies, requiring a 70% agreement for approval among participants.
- The agreed criteria focus on conditions that progress with age, contribute to functional decline, and are backed by human studies, setting a foundation for future classification and staging efforts.
CASTing the net wider: A case report of PLACK syndrome associated with dilated cardiomyopathy.
Pediatr Dermatol
November 2024
Department of Internal Medicine, Division of Dermatology, Dell Medical School, University of Texas, Austin, Texas, USA.
Article Synopsis
- PLACK syndrome is a rare genetic skin condition associated with symptoms like peeling skin, white nails, and knuckle pads, caused by mutations in the CAST gene that affects a specific protease.
- This case report discusses a patient with PLACK syndrome who showed unusual palm hyperkeratosis and developed serious heart issues, specifically cardiomyopathy.
- The report emphasizes the need to understand how CAST mutations can affect heart health and highlights the possible links between PLACK syndrome and cardiac problems.
Novel nonsense CAST mutation in two siblings with PLACK syndrome.
Int J Dermatol
October 2023
Department of Medical Genetics, Gazi Yaşargil Training and Research Hospital, University of Health Sciences, Diyarbakır, Turkey.
PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene.
Indian J Dermatol Venereol Leprol
January 2024
Department of Dermatology, Government Medical College, Kozhikode, Kerala, India.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!